Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Identification of germline missense mutations and rare allelic variants in the ATM gene in early-onset breast cancer. 10534763

1999

Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Targeted next-generation sequencing in chronic lymphocytic leukemia: a high-throughput yet tailored approach will facilitate implementation in a clinical setting. 25480502

2015

Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Deleterious Germline Mutations in Patients With Apparently Sporadic Pancreatic Adenocarcinoma. 28767289

2017

Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Genotype-phenotype relationships in ataxia-telangiectasia and variants. 9497252

1998

Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Contributions of ATM mutations to familial breast and ovarian cancer. 12810666

2003

Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Transposable elements in disease-associated cryptic exons. 19823873

2010

Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Dominant negative ATM mutations in breast cancer families. 11830610

2002

Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Ten new ATM alterations in Polish patients with ataxia-telangiectasia. 25614872

2014

Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR ATM haplotypes and cellular response to DNA damage: association with breast cancer risk and clinical radiosensitivity. 14695186

2003

Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Intraductal/ductal histology and lymphovascular invasion are associated with germline DNA-repair gene mutations in prostate cancer. 29368341

2018

Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. 27664052

2017

Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Residual ataxia telangiectasia mutated protein function in cells from ataxia telangiectasia patients, with 5762ins137 and 7271T-->G mutations, showing a less severe phenotype. 11382771

2001

Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations. 9443866

1998

Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Deep-intronic ATM mutation detected by genomic resequencing and corrected in vitro by antisense morpholino oligonucleotide (AMO). 23211698

2013

Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Ataxia-Telangiectasia Presenting as Cerebral Palsy and Recurrent Wheezing: A Case Report. 26380989

2015

Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Mutations associated with variant phenotypes in ataxia-telangiectasia. 8755918

1996

Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia. 10980530

2000

Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detection rate. 12815592

2003

Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Molecular prenatal diagnosis of ataxia telangiectasia heterozygosity by direct mutational assays. 10416970

1999

Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Heterozygous ATM mutations do not contribute to early onset of breast cancer. 9054948

1997

Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. 10817650

2000

Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Frequent germline deleterious mutations in DNA repair genes in familial prostate cancer cases are associated with advanced disease. 24556621

2014

Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias. 27528516

2016

Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR ATM germline mutations in classical ataxia-telangiectasia patients in the Dutch population. 9792409

1998

Entrez Id: 160140
Gene Symbol: C11orf65
C11orf65
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.100 CausalMutation CLINVAR Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences. 10330348

1999